{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2742006414",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 82,
          "referenceAllele": "I",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NP_620578.1:p.Ile82Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA363206289",
          "hgvs": "NM_139009.3:c.245T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181461"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2984833[alleleid]",
        "alleleId": 2984833,
        "preferredName": "NM_000410.4(HFE):c.314T>G (p.Ile105Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2819902",
        "RCV": [
          "RCV003751882"
        ],
        "variationId": 2819902
      }
    ]
  },
  "type": "amino-acid"
}